MCF2L - MCF.2 cell line derived transforming sequence like Gene

Also Known as DBS; OST; ARHGEF14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23263

About MCF2L

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:112,894,335-113,099,742 (from NCBI)

This gene has 33 transcripts (splice variants), 263 orthologues and 22 paralogues. Ubiquitous expression in fat (RPKM 8.1), brain (RPKM 8.0) and 22 other tissues.

Summary

This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

MCF2L Products (8)

mRNA Protein Name
NM_001112732.3 NP_001106203.2 guanine nucleotide exchange factor DBS isoform a
NM_001320815.2 NP_001307744.1 guanine nucleotide exchange factor DBS isoform c precursor
NM_001320816.2 NP_001307745.1 guanine nucleotide exchange factor DBS isoform d
NM_001320817.2 NP_001307746.1 guanine nucleotide exchange factor DBS isoform e precursor
NM_001366644.2 NP_001353573.1 guanine nucleotide exchange factor DBS isoform f
NM_001366645.2 NP_001353574.1 guanine nucleotide exchange factor DBS isoform g
NM_001366646.2 NP_001353575.1 guanine nucleotide exchange factor DBS isoform h
NM_024979.4 NP_079255.4 guanine nucleotide exchange factor DBS isoform b precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
15157669 GOA
enables phosphatidylinositol binding IDA
IDA: Inferred from direct assay
15157669 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of Rho protein signal transduction IDA
IDA: Inferred from direct assay
15157669 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15157669 GOA
located in endomembrane system IDA
IDA: Inferred from direct assay
15157669 GOA
located in extrinsic component of cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
15157669 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCF2L Protein Structure

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (82 - 224)

Spectrin

Spectrin: Spectrin repeat (352 - 454)

RhoGEF

RhoGEF: RhoGEF domain (635 - 810)

SH3_2

SH3_2: Variant SH3 domain (1061 - 1113)

  • 0
  • 200
  • 400
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  • 800
  • 1000
  • 1137 a.a.
Protein Preferred Names Protein Names

guanine nucleotide exchange factor DBS

  • DBL's big sister

Related Diseases

Diseases Alias
Osteoarthritis

  • Osteoarthrosis

  • Degenerative Joint Disease

  • Hypertrophic Arthritis

  • Arthropathy

  • Degenerative Polyarthritis

  • Degenerative Arthritis

  • Osteoarthrosis And Allied Disorder

  • Arthritis, Degenerative

  • Oa

  • Osteoarthritis Deformans

  • Osteoarthrosis Deformans

  • Kashin-Beck Disease
Hypoparathyroidism, X-Linked

  • HYPX

  • X-Linked Hypoparathyroidism

  • Parathyroid Glands, Agenesis Of

  • Agenesis Of Parathyroid Glands

  • Hypoparathyroidism X-Linked

  • Hypoparathyroidism - X-Linked
Brain Small Vessel Disease 2

  • Porencephaly 2

  • BSVD2

  • Gould Syndrome 2

  • Porencephaly 2, Formerly

  • Poren2, Formerly

  • Poren2
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08223 MCF2L Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22629 Mcf2l Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus MCF2L VGNC VGNC:31302
Canis familiaris MCF2L VGNC VGNC:43074
Felis catus MCF2L VGNC VGNC:63411
Macaca mulatta MCF2L VGNC VGNC:106270
Rattus norvegicus MCF2L RGD RGD:619782
Mus musculus MCF2L MGD MGI:103263
Others MCF2L NCBI